Name: rs3029016
Published: September 21, 2022
License: Open Access

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs3029016

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr10:10941992-10942011 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: del(A)₆ / del(A)₅ / del(A)₄ / delA…
del(A)₆ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA
Variation Type: Indel Insertion and Deletion
Frequency: delAA=0.3248 (1822/5609, ALFA)
delAA=0.4036 (2021/5008, 1000G)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: CELF2 : Intron Variant
LINC00710 : Intron Variant
Publications: 0 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	5609	AAAAAAAAAAAAAAAAAAAA=0.6572	AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0041, AAAAAAAAAAAAAAAAAA=0.3248, AAAAAAAAAAAAAAAAAAAAA=0.0036, AAAAAAAAAAAAAAAAAAA=0.0103, AAAAAAAAAAAAAAAAAAAAAA=0.0000	0.457122	0.119687	0.423192	3
European	Sub	5477	AAAAAAAAAAAAAAAAAAAA=0.6494	AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0042, AAAAAAAAAAAAAAAAAA=0.3321, AAAAAAAAAAAAAAAAAAAAA=0.0037, AAAAAAAAAAAAAAAAAAA=0.0106, AAAAAAAAAAAAAAAAAAAAAA=0.0000	0.444572	0.122706	0.432722	2
African	Sub	32	AAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African Others	Sub	0	AAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
African American	Sub	32	AAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Asian	Sub	4	AAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
East Asian	Sub	2	AAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Other Asian	Sub	2	AAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	6	AAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 2	Sub	34	AAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	4	AAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Other	Sub	52	AAAAAAAAAAAAAAAAAAAA=0.94	AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.06, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	0.884615	0.0	0.115385	0

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	5609	(A)₂₀=0.6572	del(A)₆=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0041, delAA=0.3248, delA=0.0103, dupA=0.0036, dupAA=0.0000
Allele Frequency Aggregator	European	Sub	5477	(A)₂₀=0.6494	del(A)₆=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0042, delAA=0.3321, delA=0.0106, dupA=0.0037, dupAA=0.0000
Allele Frequency Aggregator	Other	Sub	52	(A)₂₀=0.94	del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.06, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator	Latin American 2	Sub	34	(A)₂₀=1.00	del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator	African	Sub	32	(A)₂₀=1.00	del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator	Latin American 1	Sub	6	(A)₂₀=1.0	del(A)₆=0.0, del(A)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0
Allele Frequency Aggregator	South Asian	Sub	4	(A)₂₀=1.0	del(A)₆=0.0, del(A)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0
Allele Frequency Aggregator	Asian	Sub	4	(A)₂₀=1.0	del(A)₆=0.0, del(A)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0
1000Genomes	Global	Study-wide	5008	(A)₂₀=0.5964	delAA=0.4036
1000Genomes	African	Sub	1322	(A)₂₀=0.5840	delAA=0.4160
1000Genomes	East Asian	Sub	1008	(A)₂₀=0.5575	delAA=0.4425
1000Genomes	Europe	Sub	1006	(A)₂₀=0.6501	delAA=0.3499
1000Genomes	South Asian	Sub	978	(A)₂₀=0.606	delAA=0.394
1000Genomes	American	Sub	694	(A)₂₀=0.585	delAA=0.415

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 10	NC_000010.11:g.10942006_10942011del
GRCh38.p14 chr 10	NC_000010.11:g.10942007_10942011del
GRCh38.p14 chr 10	NC_000010.11:g.10942008_10942011del
GRCh38.p14 chr 10	NC_000010.11:g.10942009_10942011del
GRCh38.p14 chr 10	NC_000010.11:g.10942010_10942011del
GRCh38.p14 chr 10	NC_000010.11:g.10942011del
GRCh38.p14 chr 10	NC_000010.11:g.10942011dup
GRCh38.p14 chr 10	NC_000010.11:g.10942010_10942011dup
GRCh37.p13 chr 10	NC_000010.10:g.10983969_10983974del
GRCh37.p13 chr 10	NC_000010.10:g.10983970_10983974del
GRCh37.p13 chr 10	NC_000010.10:g.10983971_10983974del
GRCh37.p13 chr 10	NC_000010.10:g.10983972_10983974del
GRCh37.p13 chr 10	NC_000010.10:g.10983973_10983974del
GRCh37.p13 chr 10	NC_000010.10:g.10983974del
GRCh37.p13 chr 10	NC_000010.10:g.10983974dup
GRCh37.p13 chr 10	NC_000010.10:g.10983973_10983974dup

Gene: CELF2, CUGBP Elav-like family member 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CELF2 transcript variant 5	NM_001326317.2:c.-20+2200… NM_001326317.2:c.-20+22007_-20+22012del	N/A	Intron Variant
CELF2 transcript variant 6	NM_001326318.2:c.-20+2200… NM_001326318.2:c.-20+22007_-20+22012del	N/A	Intron Variant
CELF2 transcript variant 7	NM_001326319.2:c.-20+1552… NM_001326319.2:c.-20+1552_-20+1557del	N/A	Intron Variant
CELF2 transcript variant 8	NM_001326320.2:c.-20+2200… NM_001326320.2:c.-20+22007_-20+22012del	N/A	Intron Variant
CELF2 transcript variant 9	NM_001326321.2:c.-20+2200… NM_001326321.2:c.-20+22007_-20+22012del	N/A	Intron Variant
CELF2 transcript variant 10	NM_001326323.2:c.-20+2200… NM_001326323.2:c.-20+22007_-20+22012del	N/A	Intron Variant
CELF2 transcript variant 11	NM_001326324.2:c.-20+2200… NM_001326324.2:c.-20+22007_-20+22012del	N/A	Intron Variant
CELF2 transcript variant 12	NM_001326325.2:c.146+2200… NM_001326325.2:c.146+22007_146+22012del	N/A	Intron Variant
CELF2 transcript variant 13	NM_001326326.2:c.89+22007… NM_001326326.2:c.89+22007_89+22012del	N/A	Intron Variant
CELF2 transcript variant 14	NM_001326327.2:c.89+22007… NM_001326327.2:c.89+22007_89+22012del	N/A	Intron Variant
CELF2 transcript variant 15	NM_001326328.2:c.-20+2200… NM_001326328.2:c.-20+22007_-20+22012del	N/A	Intron Variant
CELF2 transcript variant 1	NM_001025076.2:c.	N/A	Genic Upstream Transcript Variant
CELF2 transcript variant 3	NM_001025077.3:c.	N/A	Genic Upstream Transcript Variant
CELF2 transcript variant 4	NM_001083591.1:c.	N/A	Genic Upstream Transcript Variant
CELF2 transcript variant 16	NM_001326329.2:c.	N/A	Genic Upstream Transcript Variant
CELF2 transcript variant 17	NM_001326330.2:c.	N/A	Genic Upstream Transcript Variant
CELF2 transcript variant 18	NM_001326331.2:c.	N/A	Genic Upstream Transcript Variant
CELF2 transcript variant 19	NM_001326332.2:c.	N/A	Genic Upstream Transcript Variant
CELF2 transcript variant 20	NM_001326333.2:c.	N/A	Genic Upstream Transcript Variant
CELF2 transcript variant 21	NM_001326334.2:c.	N/A	Genic Upstream Transcript Variant
CELF2 transcript variant 22	NM_001326335.2:c.	N/A	Genic Upstream Transcript Variant
CELF2 transcript variant 23	NM_001326336.2:c.	N/A	Genic Upstream Transcript Variant
CELF2 transcript variant 24	NM_001326337.2:c.	N/A	Genic Upstream Transcript Variant
CELF2 transcript variant 25	NM_001326338.2:c.	N/A	Genic Upstream Transcript Variant
CELF2 transcript variant 26	NM_001326339.2:c.	N/A	Genic Upstream Transcript Variant
CELF2 transcript variant 27	NM_001326340.2:c.	N/A	Genic Upstream Transcript Variant
CELF2 transcript variant 28	NM_001326341.2:c.	N/A	Genic Upstream Transcript Variant
CELF2 transcript variant 29	NM_001326342.2:c.	N/A	Genic Upstream Transcript Variant
CELF2 transcript variant 30	NM_001326343.2:c.	N/A	Genic Upstream Transcript Variant
CELF2 transcript variant 31	NM_001326344.2:c.	N/A	Genic Upstream Transcript Variant
CELF2 transcript variant 32	NM_001326345.2:c.	N/A	Genic Upstream Transcript Variant
CELF2 transcript variant 33	NM_001326346.2:c.	N/A	Genic Upstream Transcript Variant
CELF2 transcript variant 34	NM_001326347.1:c.	N/A	Genic Upstream Transcript Variant
CELF2 transcript variant 35	NM_001326348.2:c.	N/A	Genic Upstream Transcript Variant
CELF2 transcript variant 36	NM_001326349.2:c.	N/A	Genic Upstream Transcript Variant
CELF2 transcript variant 37	NM_001394502.1:c.	N/A	Genic Upstream Transcript Variant
CELF2 transcript variant 38	NM_001394513.1:c.	N/A	Genic Upstream Transcript Variant
CELF2 transcript variant 39	NM_001394517.1:c.	N/A	Genic Upstream Transcript Variant
CELF2 transcript variant 40	NM_001394518.1:c.	N/A	Genic Upstream Transcript Variant
CELF2 transcript variant 41	NM_001394519.1:c.	N/A	Genic Upstream Transcript Variant
CELF2 transcript variant 2	NM_006561.4:c.	N/A	Genic Upstream Transcript Variant
CELF2 transcript variant X1	XM_047424482.1:c.146+2200… XM_047424482.1:c.146+22007_146+22012del	N/A	Intron Variant
CELF2 transcript variant X2	XM_047424483.1:c.146+2200… XM_047424483.1:c.146+22007_146+22012del	N/A	Intron Variant
CELF2 transcript variant X4	XM_047424484.1:c.89+22007… XM_047424484.1:c.89+22007_89+22012del	N/A	Intron Variant
CELF2 transcript variant X5	XM_047424485.1:c.89+22007… XM_047424485.1:c.89+22007_89+22012del	N/A	Intron Variant
CELF2 transcript variant X7	XM_047424487.1:c.89+22007… XM_047424487.1:c.89+22007_89+22012del	N/A	Intron Variant
CELF2 transcript variant X8	XM_047424488.1:c.-20+2200… XM_047424488.1:c.-20+22007_-20+22012del	N/A	Intron Variant
CELF2 transcript variant X10	XM_047424490.1:c.-20+2200… XM_047424490.1:c.-20+22007_-20+22012del	N/A	Intron Variant
CELF2 transcript variant X11	XM_047424491.1:c.-20+2200… XM_047424491.1:c.-20+22007_-20+22012del	N/A	Intron Variant
CELF2 transcript variant X12	XM_047424492.1:c.-20+1552… XM_047424492.1:c.-20+1552_-20+1557del	N/A	Intron Variant
CELF2 transcript variant X14	XM_047424494.1:c.-20+1552… XM_047424494.1:c.-20+1552_-20+1557del	N/A	Intron Variant
CELF2 transcript variant X16	XM_047424496.1:c.-20+1552… XM_047424496.1:c.-20+1552_-20+1557del	N/A	Intron Variant
CELF2 transcript variant X18	XM_047424499.1:c.-20+1552… XM_047424499.1:c.-20+1552_-20+1557del	N/A	Intron Variant
CELF2 transcript variant X29	XM_047424501.1:c.-20+2200… XM_047424501.1:c.-20+22007_-20+22012del	N/A	Intron Variant
CELF2 transcript variant X23	XM_047424506.1:c.89+22007… XM_047424506.1:c.89+22007_89+22012del	N/A	Intron Variant
CELF2 transcript variant X25	XM_047424508.1:c.-20+2200… XM_047424508.1:c.-20+22007_-20+22012del	N/A	Intron Variant
CELF2 transcript variant X3	XM_024447776.2:c.	N/A	Genic Upstream Transcript Variant
CELF2 transcript variant X6	XM_047424486.1:c.	N/A	Genic Upstream Transcript Variant
CELF2 transcript variant X9	XM_047424489.1:c.	N/A	Genic Upstream Transcript Variant
CELF2 transcript variant X13	XM_047424493.1:c.	N/A	Genic Upstream Transcript Variant
CELF2 transcript variant X15	XM_047424495.1:c.	N/A	Genic Upstream Transcript Variant
CELF2 transcript variant X17	XM_047424498.1:c.	N/A	Genic Upstream Transcript Variant
CELF2 transcript variant X28	XM_047424500.1:c.	N/A	Genic Upstream Transcript Variant
CELF2 transcript variant X19	XM_047424502.1:c.	N/A	Genic Upstream Transcript Variant
CELF2 transcript variant X20	XM_047424503.1:c.	N/A	Genic Upstream Transcript Variant
CELF2 transcript variant X21	XM_047424504.1:c.	N/A	Genic Upstream Transcript Variant
CELF2 transcript variant X22	XM_047424505.1:c.	N/A	Genic Upstream Transcript Variant
CELF2 transcript variant X24	XM_047424507.1:c.	N/A	Genic Upstream Transcript Variant
CELF2 transcript variant X26	XM_047424509.1:c.	N/A	Genic Upstream Transcript Variant
CELF2 transcript variant X27	XM_047424510.1:c.	N/A	Genic Upstream Transcript Variant

Gene: LINC00710, long intergenic non-protein coding RNA 710 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LINC00710 transcript variant 1	NR_015413.1:n.	N/A	Intron Variant
LINC00710 transcript variant 2	NR_024410.1:n.	N/A	Intron Variant
LINC00710 transcript variant 3	NR_024411.1:n.	N/A	Intron Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	(A)₂₀=	del(A)₆	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA
GRCh38.p14 chr 10	NC_000010.11:g.10941992_10942011=	NC_000010.11:g.10942006_10942011del	NC_000010.11:g.10942007_10942011del	NC_000010.11:g.10942008_10942011del	NC_000010.11:g.10942009_10942011del	NC_000010.11:g.10942010_10942011del	NC_000010.11:g.10942011del	NC_000010.11:g.10942011dup	NC_000010.11:g.10942010_10942011dup
GRCh37.p13 chr 10	NC_000010.10:g.10983955_10983974=	NC_000010.10:g.10983969_10983974del	NC_000010.10:g.10983970_10983974del	NC_000010.10:g.10983971_10983974del	NC_000010.10:g.10983972_10983974del	NC_000010.10:g.10983973_10983974del	NC_000010.10:g.10983974del	NC_000010.10:g.10983974dup	NC_000010.10:g.10983973_10983974dup
CELF2 transcript variant 5	NM_001326317.2:c.-20+21993=	NM_001326317.2:c.-20+22007_-20+22012del	NM_001326317.2:c.-20+22008_-20+22012del	NM_001326317.2:c.-20+22009_-20+22012del	NM_001326317.2:c.-20+22010_-20+22012del	NM_001326317.2:c.-20+22011_-20+22012del	NM_001326317.2:c.-20+22012del	NM_001326317.2:c.-20+22012dup	NM_001326317.2:c.-20+22011_-20+22012dup
CELF2 transcript variant 6	NM_001326318.2:c.-20+21993=	NM_001326318.2:c.-20+22007_-20+22012del	NM_001326318.2:c.-20+22008_-20+22012del	NM_001326318.2:c.-20+22009_-20+22012del	NM_001326318.2:c.-20+22010_-20+22012del	NM_001326318.2:c.-20+22011_-20+22012del	NM_001326318.2:c.-20+22012del	NM_001326318.2:c.-20+22012dup	NM_001326318.2:c.-20+22011_-20+22012dup
CELF2 transcript variant 7	NM_001326319.2:c.-20+1538=	NM_001326319.2:c.-20+1552_-20+1557del	NM_001326319.2:c.-20+1553_-20+1557del	NM_001326319.2:c.-20+1554_-20+1557del	NM_001326319.2:c.-20+1555_-20+1557del	NM_001326319.2:c.-20+1556_-20+1557del	NM_001326319.2:c.-20+1557del	NM_001326319.2:c.-20+1557dup	NM_001326319.2:c.-20+1556_-20+1557dup
CELF2 transcript variant 8	NM_001326320.2:c.-20+21993=	NM_001326320.2:c.-20+22007_-20+22012del	NM_001326320.2:c.-20+22008_-20+22012del	NM_001326320.2:c.-20+22009_-20+22012del	NM_001326320.2:c.-20+22010_-20+22012del	NM_001326320.2:c.-20+22011_-20+22012del	NM_001326320.2:c.-20+22012del	NM_001326320.2:c.-20+22012dup	NM_001326320.2:c.-20+22011_-20+22012dup
CELF2 transcript variant 9	NM_001326321.2:c.-20+21993=	NM_001326321.2:c.-20+22007_-20+22012del	NM_001326321.2:c.-20+22008_-20+22012del	NM_001326321.2:c.-20+22009_-20+22012del	NM_001326321.2:c.-20+22010_-20+22012del	NM_001326321.2:c.-20+22011_-20+22012del	NM_001326321.2:c.-20+22012del	NM_001326321.2:c.-20+22012dup	NM_001326321.2:c.-20+22011_-20+22012dup
CELF2 transcript variant 10	NM_001326323.2:c.-20+21993=	NM_001326323.2:c.-20+22007_-20+22012del	NM_001326323.2:c.-20+22008_-20+22012del	NM_001326323.2:c.-20+22009_-20+22012del	NM_001326323.2:c.-20+22010_-20+22012del	NM_001326323.2:c.-20+22011_-20+22012del	NM_001326323.2:c.-20+22012del	NM_001326323.2:c.-20+22012dup	NM_001326323.2:c.-20+22011_-20+22012dup
CELF2 transcript variant 11	NM_001326324.2:c.-20+21993=	NM_001326324.2:c.-20+22007_-20+22012del	NM_001326324.2:c.-20+22008_-20+22012del	NM_001326324.2:c.-20+22009_-20+22012del	NM_001326324.2:c.-20+22010_-20+22012del	NM_001326324.2:c.-20+22011_-20+22012del	NM_001326324.2:c.-20+22012del	NM_001326324.2:c.-20+22012dup	NM_001326324.2:c.-20+22011_-20+22012dup
CELF2 transcript variant 12	NM_001326325.2:c.146+21993=	NM_001326325.2:c.146+22007_146+22012del	NM_001326325.2:c.146+22008_146+22012del	NM_001326325.2:c.146+22009_146+22012del	NM_001326325.2:c.146+22010_146+22012del	NM_001326325.2:c.146+22011_146+22012del	NM_001326325.2:c.146+22012del	NM_001326325.2:c.146+22012dup	NM_001326325.2:c.146+22011_146+22012dup
CELF2 transcript variant 13	NM_001326326.2:c.89+21993=	NM_001326326.2:c.89+22007_89+22012del	NM_001326326.2:c.89+22008_89+22012del	NM_001326326.2:c.89+22009_89+22012del	NM_001326326.2:c.89+22010_89+22012del	NM_001326326.2:c.89+22011_89+22012del	NM_001326326.2:c.89+22012del	NM_001326326.2:c.89+22012dup	NM_001326326.2:c.89+22011_89+22012dup
CELF2 transcript variant 14	NM_001326327.2:c.89+21993=	NM_001326327.2:c.89+22007_89+22012del	NM_001326327.2:c.89+22008_89+22012del	NM_001326327.2:c.89+22009_89+22012del	NM_001326327.2:c.89+22010_89+22012del	NM_001326327.2:c.89+22011_89+22012del	NM_001326327.2:c.89+22012del	NM_001326327.2:c.89+22012dup	NM_001326327.2:c.89+22011_89+22012dup
CELF2 transcript variant 15	NM_001326328.2:c.-20+21993=	NM_001326328.2:c.-20+22007_-20+22012del	NM_001326328.2:c.-20+22008_-20+22012del	NM_001326328.2:c.-20+22009_-20+22012del	NM_001326328.2:c.-20+22010_-20+22012del	NM_001326328.2:c.-20+22011_-20+22012del	NM_001326328.2:c.-20+22012del	NM_001326328.2:c.-20+22012dup	NM_001326328.2:c.-20+22011_-20+22012dup
CELF2 transcript variant X1	XM_005252346.1:c.146+21993=	XM_005252346.1:c.146+22007_146+22012del	XM_005252346.1:c.146+22008_146+22012del	XM_005252346.1:c.146+22009_146+22012del	XM_005252346.1:c.146+22010_146+22012del	XM_005252346.1:c.146+22011_146+22012del	XM_005252346.1:c.146+22012del	XM_005252346.1:c.146+22012dup	XM_005252346.1:c.146+22011_146+22012dup
CELF2 transcript variant X2	XM_005252347.1:c.146+21993=	XM_005252347.1:c.146+22007_146+22012del	XM_005252347.1:c.146+22008_146+22012del	XM_005252347.1:c.146+22009_146+22012del	XM_005252347.1:c.146+22010_146+22012del	XM_005252347.1:c.146+22011_146+22012del	XM_005252347.1:c.146+22012del	XM_005252347.1:c.146+22012dup	XM_005252347.1:c.146+22011_146+22012dup
CELF2 transcript variant X3	XM_005252348.1:c.146+21993=	XM_005252348.1:c.146+22007_146+22012del	XM_005252348.1:c.146+22008_146+22012del	XM_005252348.1:c.146+22009_146+22012del	XM_005252348.1:c.146+22010_146+22012del	XM_005252348.1:c.146+22011_146+22012del	XM_005252348.1:c.146+22012del	XM_005252348.1:c.146+22012dup	XM_005252348.1:c.146+22011_146+22012dup
CELF2 transcript variant X4	XM_005252349.1:c.146+21993=	XM_005252349.1:c.146+22007_146+22012del	XM_005252349.1:c.146+22008_146+22012del	XM_005252349.1:c.146+22009_146+22012del	XM_005252349.1:c.146+22010_146+22012del	XM_005252349.1:c.146+22011_146+22012del	XM_005252349.1:c.146+22012del	XM_005252349.1:c.146+22012dup	XM_005252349.1:c.146+22011_146+22012dup
CELF2 transcript variant X5	XM_005252350.1:c.146+21993=	XM_005252350.1:c.146+22007_146+22012del	XM_005252350.1:c.146+22008_146+22012del	XM_005252350.1:c.146+22009_146+22012del	XM_005252350.1:c.146+22010_146+22012del	XM_005252350.1:c.146+22011_146+22012del	XM_005252350.1:c.146+22012del	XM_005252350.1:c.146+22012dup	XM_005252350.1:c.146+22011_146+22012dup
CELF2 transcript variant X6	XM_005252351.1:c.146+21993=	XM_005252351.1:c.146+22007_146+22012del	XM_005252351.1:c.146+22008_146+22012del	XM_005252351.1:c.146+22009_146+22012del	XM_005252351.1:c.146+22010_146+22012del	XM_005252351.1:c.146+22011_146+22012del	XM_005252351.1:c.146+22012del	XM_005252351.1:c.146+22012dup	XM_005252351.1:c.146+22011_146+22012dup
CELF2 transcript variant X1	XM_047424482.1:c.146+21993=	XM_047424482.1:c.146+22007_146+22012del	XM_047424482.1:c.146+22008_146+22012del	XM_047424482.1:c.146+22009_146+22012del	XM_047424482.1:c.146+22010_146+22012del	XM_047424482.1:c.146+22011_146+22012del	XM_047424482.1:c.146+22012del	XM_047424482.1:c.146+22012dup	XM_047424482.1:c.146+22011_146+22012dup
CELF2 transcript variant X2	XM_047424483.1:c.146+21993=	XM_047424483.1:c.146+22007_146+22012del	XM_047424483.1:c.146+22008_146+22012del	XM_047424483.1:c.146+22009_146+22012del	XM_047424483.1:c.146+22010_146+22012del	XM_047424483.1:c.146+22011_146+22012del	XM_047424483.1:c.146+22012del	XM_047424483.1:c.146+22012dup	XM_047424483.1:c.146+22011_146+22012dup
CELF2 transcript variant X4	XM_047424484.1:c.89+21993=	XM_047424484.1:c.89+22007_89+22012del	XM_047424484.1:c.89+22008_89+22012del	XM_047424484.1:c.89+22009_89+22012del	XM_047424484.1:c.89+22010_89+22012del	XM_047424484.1:c.89+22011_89+22012del	XM_047424484.1:c.89+22012del	XM_047424484.1:c.89+22012dup	XM_047424484.1:c.89+22011_89+22012dup
CELF2 transcript variant X5	XM_047424485.1:c.89+21993=	XM_047424485.1:c.89+22007_89+22012del	XM_047424485.1:c.89+22008_89+22012del	XM_047424485.1:c.89+22009_89+22012del	XM_047424485.1:c.89+22010_89+22012del	XM_047424485.1:c.89+22011_89+22012del	XM_047424485.1:c.89+22012del	XM_047424485.1:c.89+22012dup	XM_047424485.1:c.89+22011_89+22012dup
CELF2 transcript variant X7	XM_047424487.1:c.89+21993=	XM_047424487.1:c.89+22007_89+22012del	XM_047424487.1:c.89+22008_89+22012del	XM_047424487.1:c.89+22009_89+22012del	XM_047424487.1:c.89+22010_89+22012del	XM_047424487.1:c.89+22011_89+22012del	XM_047424487.1:c.89+22012del	XM_047424487.1:c.89+22012dup	XM_047424487.1:c.89+22011_89+22012dup
CELF2 transcript variant X8	XM_047424488.1:c.-20+21993=	XM_047424488.1:c.-20+22007_-20+22012del	XM_047424488.1:c.-20+22008_-20+22012del	XM_047424488.1:c.-20+22009_-20+22012del	XM_047424488.1:c.-20+22010_-20+22012del	XM_047424488.1:c.-20+22011_-20+22012del	XM_047424488.1:c.-20+22012del	XM_047424488.1:c.-20+22012dup	XM_047424488.1:c.-20+22011_-20+22012dup
CELF2 transcript variant X10	XM_047424490.1:c.-20+21993=	XM_047424490.1:c.-20+22007_-20+22012del	XM_047424490.1:c.-20+22008_-20+22012del	XM_047424490.1:c.-20+22009_-20+22012del	XM_047424490.1:c.-20+22010_-20+22012del	XM_047424490.1:c.-20+22011_-20+22012del	XM_047424490.1:c.-20+22012del	XM_047424490.1:c.-20+22012dup	XM_047424490.1:c.-20+22011_-20+22012dup
CELF2 transcript variant X11	XM_047424491.1:c.-20+21993=	XM_047424491.1:c.-20+22007_-20+22012del	XM_047424491.1:c.-20+22008_-20+22012del	XM_047424491.1:c.-20+22009_-20+22012del	XM_047424491.1:c.-20+22010_-20+22012del	XM_047424491.1:c.-20+22011_-20+22012del	XM_047424491.1:c.-20+22012del	XM_047424491.1:c.-20+22012dup	XM_047424491.1:c.-20+22011_-20+22012dup
CELF2 transcript variant X12	XM_047424492.1:c.-20+1538=	XM_047424492.1:c.-20+1552_-20+1557del	XM_047424492.1:c.-20+1553_-20+1557del	XM_047424492.1:c.-20+1554_-20+1557del	XM_047424492.1:c.-20+1555_-20+1557del	XM_047424492.1:c.-20+1556_-20+1557del	XM_047424492.1:c.-20+1557del	XM_047424492.1:c.-20+1557dup	XM_047424492.1:c.-20+1556_-20+1557dup
CELF2 transcript variant X14	XM_047424494.1:c.-20+1538=	XM_047424494.1:c.-20+1552_-20+1557del	XM_047424494.1:c.-20+1553_-20+1557del	XM_047424494.1:c.-20+1554_-20+1557del	XM_047424494.1:c.-20+1555_-20+1557del	XM_047424494.1:c.-20+1556_-20+1557del	XM_047424494.1:c.-20+1557del	XM_047424494.1:c.-20+1557dup	XM_047424494.1:c.-20+1556_-20+1557dup
CELF2 transcript variant X16	XM_047424496.1:c.-20+1538=	XM_047424496.1:c.-20+1552_-20+1557del	XM_047424496.1:c.-20+1553_-20+1557del	XM_047424496.1:c.-20+1554_-20+1557del	XM_047424496.1:c.-20+1555_-20+1557del	XM_047424496.1:c.-20+1556_-20+1557del	XM_047424496.1:c.-20+1557del	XM_047424496.1:c.-20+1557dup	XM_047424496.1:c.-20+1556_-20+1557dup
CELF2 transcript variant X18	XM_047424499.1:c.-20+1538=	XM_047424499.1:c.-20+1552_-20+1557del	XM_047424499.1:c.-20+1553_-20+1557del	XM_047424499.1:c.-20+1554_-20+1557del	XM_047424499.1:c.-20+1555_-20+1557del	XM_047424499.1:c.-20+1556_-20+1557del	XM_047424499.1:c.-20+1557del	XM_047424499.1:c.-20+1557dup	XM_047424499.1:c.-20+1556_-20+1557dup
CELF2 transcript variant X29	XM_047424501.1:c.-20+21993=	XM_047424501.1:c.-20+22007_-20+22012del	XM_047424501.1:c.-20+22008_-20+22012del	XM_047424501.1:c.-20+22009_-20+22012del	XM_047424501.1:c.-20+22010_-20+22012del	XM_047424501.1:c.-20+22011_-20+22012del	XM_047424501.1:c.-20+22012del	XM_047424501.1:c.-20+22012dup	XM_047424501.1:c.-20+22011_-20+22012dup
CELF2 transcript variant X23	XM_047424506.1:c.89+21993=	XM_047424506.1:c.89+22007_89+22012del	XM_047424506.1:c.89+22008_89+22012del	XM_047424506.1:c.89+22009_89+22012del	XM_047424506.1:c.89+22010_89+22012del	XM_047424506.1:c.89+22011_89+22012del	XM_047424506.1:c.89+22012del	XM_047424506.1:c.89+22012dup	XM_047424506.1:c.89+22011_89+22012dup
CELF2 transcript variant X25	XM_047424508.1:c.-20+21993=	XM_047424508.1:c.-20+22007_-20+22012del	XM_047424508.1:c.-20+22008_-20+22012del	XM_047424508.1:c.-20+22009_-20+22012del	XM_047424508.1:c.-20+22010_-20+22012del	XM_047424508.1:c.-20+22011_-20+22012del	XM_047424508.1:c.-20+22012del	XM_047424508.1:c.-20+22012dup	XM_047424508.1:c.-20+22011_-20+22012dup

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

60 SubSNP, 26 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss4260041	Dec 03, 2013 (138)
2	HUMANGENOME_JCVI	ss95532907	Mar 15, 2016 (147)
3	GMI	ss288996768	May 04, 2012 (137)
4	GMI	ss288996769	May 04, 2012 (137)
5	PJP	ss294642101	Aug 21, 2014 (142)
6	PJP	ss294642102	May 09, 2011 (135)
7	BILGI_BIOE	ss666490123	Apr 25, 2013 (138)
8	1000GENOMES	ss1369113175	Aug 21, 2014 (142)
9	EVA_UK10K_ALSPAC	ss1706636469	Apr 01, 2015 (144)
10	EVA_UK10K_TWINSUK	ss1706636637	Apr 01, 2015 (144)
11	EVA_UK10K_TWINSUK	ss1710453386	Apr 01, 2015 (144)
12	EVA_UK10K_ALSPAC	ss1710453543	Apr 01, 2015 (144)
13	SYSTEMSBIOZJU	ss2627461137	Nov 08, 2017 (151)
14	MCHAISSO	ss3063640758	Nov 08, 2017 (151)
15	MCHAISSO	ss3064460188	Nov 08, 2017 (151)
16	MCHAISSO	ss3065367514	Nov 08, 2017 (151)
17	EVA_DECODE	ss3689281506	Jul 13, 2019 (153)
18	EVA_DECODE	ss3689281507	Jul 13, 2019 (153)
19	EVA_DECODE	ss3689281508	Jul 13, 2019 (153)
20	EVA_DECODE	ss3689281509	Jul 13, 2019 (153)
21	EVA_DECODE	ss3689281510	Jul 13, 2019 (153)
22	ACPOP	ss3737062028	Jul 13, 2019 (153)
23	ACPOP	ss3737062029	Jul 13, 2019 (153)
24	ACPOP	ss3737062030	Jul 13, 2019 (153)
25	PACBIO	ss3786582672	Jul 13, 2019 (153)
26	PACBIO	ss3791775222	Jul 13, 2019 (153)
27	PACBIO	ss3796657054	Jul 13, 2019 (153)
28	KHV_HUMAN_GENOMES	ss3813108502	Jul 13, 2019 (153)
29	EVA	ss3831968832	Apr 26, 2020 (154)
30	EVA	ss3844982291	Apr 26, 2020 (154)
31	GNOMAD	ss4212928182	Apr 27, 2021 (155)
32	GNOMAD	ss4212928183	Apr 27, 2021 (155)
33	GNOMAD	ss4212928184	Apr 27, 2021 (155)
34	GNOMAD	ss4212928185	Apr 27, 2021 (155)
35	GNOMAD	ss4212928186	Apr 27, 2021 (155)
36	GNOMAD	ss4212928187	Apr 27, 2021 (155)
37	GNOMAD	ss4212928188	Apr 27, 2021 (155)
38	GNOMAD	ss4212928189	Apr 27, 2021 (155)
39	TOMMO_GENOMICS	ss5196261766	Apr 27, 2021 (155)
40	TOMMO_GENOMICS	ss5196261767	Apr 27, 2021 (155)
41	TOMMO_GENOMICS	ss5196261768	Apr 27, 2021 (155)
42	TOMMO_GENOMICS	ss5196261769	Apr 27, 2021 (155)
43	1000G_HIGH_COVERAGE	ss5282918775	Oct 16, 2022 (156)
44	1000G_HIGH_COVERAGE	ss5282918776	Oct 16, 2022 (156)
45	1000G_HIGH_COVERAGE	ss5282918777	Oct 16, 2022 (156)
46	1000G_HIGH_COVERAGE	ss5282918778	Oct 16, 2022 (156)
47	1000G_HIGH_COVERAGE	ss5282918780	Oct 16, 2022 (156)
48	HUGCELL_USP	ss5478696857	Oct 16, 2022 (156)
49	HUGCELL_USP	ss5478696858	Oct 16, 2022 (156)
50	HUGCELL_USP	ss5478696859	Oct 16, 2022 (156)
51	HUGCELL_USP	ss5478696860	Oct 16, 2022 (156)
52	HUGCELL_USP	ss5478696861	Oct 16, 2022 (156)
53	TOMMO_GENOMICS	ss5741108415	Oct 16, 2022 (156)
54	TOMMO_GENOMICS	ss5741108416	Oct 16, 2022 (156)
55	TOMMO_GENOMICS	ss5741108417	Oct 16, 2022 (156)
56	TOMMO_GENOMICS	ss5741108418	Oct 16, 2022 (156)
57	TOMMO_GENOMICS	ss5741108419	Oct 16, 2022 (156)
58	EVA	ss5823976600	Oct 16, 2022 (156)
59	EVA	ss5823976601	Oct 16, 2022 (156)
60	EVA	ss5877735364	Oct 16, 2022 (156)
61	1000Genomes	NC_000010.10 - 10983955	Oct 12, 2018 (152)
62	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 27017986 (NC_000010.10:10983955:A: 3042/3854) Row 27017987 (NC_000010.10:10983954:AAA: 689/3854)	-	Oct 12, 2018 (152)
63	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 27017986 (NC_000010.10:10983955:A: 3042/3854) Row 27017987 (NC_000010.10:10983954:AAA: 689/3854)	-	Oct 12, 2018 (152)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 343442136 (NC_000010.11:10941991::A 581/103916) Row 343442137 (NC_000010.11:10941991::AA 1/103974) Row 343442138 (NC_000010.11:10941991:A: 5581/103894)...	-	Apr 27, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 343442136 (NC_000010.11:10941991::A 581/103916) Row 343442137 (NC_000010.11:10941991::AA 1/103974) Row 343442138 (NC_000010.11:10941991:A: 5581/103894)...	-	Apr 27, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 343442136 (NC_000010.11:10941991::A 581/103916) Row 343442137 (NC_000010.11:10941991::AA 1/103974) Row 343442138 (NC_000010.11:10941991:A: 5581/103894)...	-	Apr 27, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 343442136 (NC_000010.11:10941991::A 581/103916) Row 343442137 (NC_000010.11:10941991::AA 1/103974) Row 343442138 (NC_000010.11:10941991:A: 5581/103894)...	-	Apr 27, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 343442136 (NC_000010.11:10941991::A 581/103916) Row 343442137 (NC_000010.11:10941991::AA 1/103974) Row 343442138 (NC_000010.11:10941991:A: 5581/103894)...	-	Apr 27, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 343442136 (NC_000010.11:10941991::A 581/103916) Row 343442137 (NC_000010.11:10941991::AA 1/103974) Row 343442138 (NC_000010.11:10941991:A: 5581/103894)...	-	Apr 27, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 343442136 (NC_000010.11:10941991::A 581/103916) Row 343442137 (NC_000010.11:10941991::AA 1/103974) Row 343442138 (NC_000010.11:10941991:A: 5581/103894)...	-	Apr 27, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 343442136 (NC_000010.11:10941991::A 581/103916) Row 343442137 (NC_000010.11:10941991::AA 1/103974) Row 343442138 (NC_000010.11:10941991:A: 5581/103894)...	-	Apr 27, 2021 (155)
72	Northern Sweden Submission ignored due to conflicting rows: Row 10346893 (NC_000010.10:10983954:AA: 248/564) Row 10346894 (NC_000010.10:10983954:A: 17/564) Row 10346895 (NC_000010.10:10983954:AAA: 16/564)	-	Jul 13, 2019 (153)
73	Northern Sweden Submission ignored due to conflicting rows: Row 10346893 (NC_000010.10:10983954:AA: 248/564) Row 10346894 (NC_000010.10:10983954:A: 17/564) Row 10346895 (NC_000010.10:10983954:AAA: 16/564)	-	Jul 13, 2019 (153)
74	Northern Sweden Submission ignored due to conflicting rows: Row 10346893 (NC_000010.10:10983954:AA: 248/564) Row 10346894 (NC_000010.10:10983954:A: 17/564) Row 10346895 (NC_000010.10:10983954:AAA: 16/564)	-	Jul 13, 2019 (153)
75	8.3KJPN Submission ignored due to conflicting rows: Row 54231073 (NC_000010.10:10983954:AA: 14632/16756) Row 54231074 (NC_000010.10:10983954:AAA: 643/16756) Row 54231075 (NC_000010.10:10983954:A: 170/16756)...	-	Apr 27, 2021 (155)
76	8.3KJPN Submission ignored due to conflicting rows: Row 54231073 (NC_000010.10:10983954:AA: 14632/16756) Row 54231074 (NC_000010.10:10983954:AAA: 643/16756) Row 54231075 (NC_000010.10:10983954:A: 170/16756)...	-	Apr 27, 2021 (155)
77	8.3KJPN Submission ignored due to conflicting rows: Row 54231073 (NC_000010.10:10983954:AA: 14632/16756) Row 54231074 (NC_000010.10:10983954:AAA: 643/16756) Row 54231075 (NC_000010.10:10983954:A: 170/16756)...	-	Apr 27, 2021 (155)
78	8.3KJPN Submission ignored due to conflicting rows: Row 54231073 (NC_000010.10:10983954:AA: 14632/16756) Row 54231074 (NC_000010.10:10983954:AAA: 643/16756) Row 54231075 (NC_000010.10:10983954:A: 170/16756)...	-	Apr 27, 2021 (155)
79	14KJPN Submission ignored due to conflicting rows: Row 74945519 (NC_000010.11:10941991:AA: 24698/28258) Row 74945520 (NC_000010.11:10941991:AAA: 1071/28258) Row 74945521 (NC_000010.11:10941991:A: 290/28258)...	-	Oct 16, 2022 (156)
80	14KJPN Submission ignored due to conflicting rows: Row 74945519 (NC_000010.11:10941991:AA: 24698/28258) Row 74945520 (NC_000010.11:10941991:AAA: 1071/28258) Row 74945521 (NC_000010.11:10941991:A: 290/28258)...	-	Oct 16, 2022 (156)
81	14KJPN Submission ignored due to conflicting rows: Row 74945519 (NC_000010.11:10941991:AA: 24698/28258) Row 74945520 (NC_000010.11:10941991:AAA: 1071/28258) Row 74945521 (NC_000010.11:10941991:A: 290/28258)...	-	Oct 16, 2022 (156)
82	14KJPN Submission ignored due to conflicting rows: Row 74945519 (NC_000010.11:10941991:AA: 24698/28258) Row 74945520 (NC_000010.11:10941991:AAA: 1071/28258) Row 74945521 (NC_000010.11:10941991:A: 290/28258)...	-	Oct 16, 2022 (156)
83	14KJPN Submission ignored due to conflicting rows: Row 74945519 (NC_000010.11:10941991:AA: 24698/28258) Row 74945520 (NC_000010.11:10941991:AAA: 1071/28258) Row 74945521 (NC_000010.11:10941991:A: 290/28258)...	-	Oct 16, 2022 (156)
84	UK 10K study - Twins Submission ignored due to conflicting rows: Row 27017986 (NC_000010.10:10983955:A: 2882/3708) Row 27017987 (NC_000010.10:10983954:AAA: 714/3708)	-	Oct 12, 2018 (152)
85	UK 10K study - Twins Submission ignored due to conflicting rows: Row 27017986 (NC_000010.10:10983955:A: 2882/3708) Row 27017987 (NC_000010.10:10983954:AAA: 714/3708)	-	Oct 12, 2018 (152)
86	ALFA	NC_000010.11 - 10941992	Apr 27, 2021 (155)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID	History Updated (Build)
rs145589035	Sep 17, 2011 (135)
rs200021446	May 11, 2012 (137)
rs67460731	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4212928189	NC_000010.11:10941991:AAAAAA:	NC_000010.11:10941991:AAAAAAAAAAAA… NC_000010.11:10941991:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
772390167	NC_000010.11:10941991:AAAAAAAAAAAA… NC_000010.11:10941991:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000010.11:10941991:AAAAAAAAAAAA… NC_000010.11:10941991:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4212928188	NC_000010.11:10941991:AAAAA:	NC_000010.11:10941991:AAAAAAAAAAAA… NC_000010.11:10941991:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
772390167	NC_000010.11:10941991:AAAAAAAAAAAA… NC_000010.11:10941991:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000010.11:10941991:AAAAAAAAAAAA… NC_000010.11:10941991:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3689281510, ss4212928187, ss5282918778, ss5478696860	NC_000010.11:10941991:AAAA:	NC_000010.11:10941991:AAAAAAAAAAAA… NC_000010.11:10941991:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
772390167	NC_000010.11:10941991:AAAAAAAAAAAA… NC_000010.11:10941991:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000010.11:10941991:AAAAAAAAAAAA… NC_000010.11:10941991:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss288996768	NC_000010.9:11023960:AAA:	NC_000010.11:10941991:AAAAAAAAAAAA… NC_000010.11:10941991:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss1706636469, ss1706636637, ss3737062030, ss5196261767, ss5823976601	NC_000010.10:10983954:AAA:	NC_000010.11:10941991:AAAAAAAAAAAA… NC_000010.11:10941991:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4212928186, ss5282918776, ss5478696858, ss5741108416	NC_000010.11:10941991:AAA:	NC_000010.11:10941991:AAAAAAAAAAAA… NC_000010.11:10941991:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
772390167	NC_000010.11:10941991:AAAAAAAAAAAA… NC_000010.11:10941991:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000010.11:10941991:AAAAAAAAAAAA… NC_000010.11:10941991:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3689281509	NC_000010.11:10941992:AAA:	NC_000010.11:10941991:AAAAAAAAAAAA… NC_000010.11:10941991:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss288996769, ss294642101	NC_000010.9:11023960:AA:	NC_000010.11:10941991:AAAAAAAAAAAA… NC_000010.11:10941991:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss294642102	NC_000010.9:11023978:AA:	NC_000010.11:10941991:AAAAAAAAAAAA… NC_000010.11:10941991:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
48620834, ss666490123, ss1369113175, ss2627461137, ss3737062028, ss3786582672, ss3791775222, ss3796657054, ss3831968832, ss5196261766, ss5823976600	NC_000010.10:10983954:AA:	NC_000010.11:10941991:AAAAAAAAAAAA… NC_000010.11:10941991:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss1710453386, ss1710453543	NC_000010.10:10983955:AA:	NC_000010.11:10941991:AAAAAAAAAAAA… NC_000010.11:10941991:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3063640758, ss3064460188, ss3065367514, ss3813108502, ss3844982291, ss4212928185, ss5282918775, ss5478696857, ss5741108415, ss5877735364	NC_000010.11:10941991:AA:	NC_000010.11:10941991:AAAAAAAAAAAA… NC_000010.11:10941991:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
772390167	NC_000010.11:10941991:AAAAAAAAAAAA… NC_000010.11:10941991:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000010.11:10941991:AAAAAAAAAAAA… NC_000010.11:10941991:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3689281508	NC_000010.11:10941993:AA:	NC_000010.11:10941991:AAAAAAAAAAAA… NC_000010.11:10941991:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss95532907	NT_008705.16:10923972:AA:	NC_000010.11:10941991:AAAAAAAAAAAA… NC_000010.11:10941991:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3737062029, ss5196261768	NC_000010.10:10983954:A:	NC_000010.11:10941991:AAAAAAAAAAAA… NC_000010.11:10941991:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
	NC_000010.10:10983955:A:	NC_000010.11:10941991:AAAAAAAAAAAA… NC_000010.11:10941991:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4212928184, ss5282918777, ss5478696859, ss5741108417	NC_000010.11:10941991:A:	NC_000010.11:10941991:AAAAAAAAAAAA… NC_000010.11:10941991:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
772390167	NC_000010.11:10941991:AAAAAAAAAAAA… NC_000010.11:10941991:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000010.11:10941991:AAAAAAAAAAAA… NC_000010.11:10941991:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3689281507	NC_000010.11:10941994:A:	NC_000010.11:10941991:AAAAAAAAAAAA… NC_000010.11:10941991:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4260041	NT_008705.16:10923973:A:	NC_000010.11:10941991:AAAAAAAAAAAA… NC_000010.11:10941991:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss5196261769	NC_000010.10:10983954::A	NC_000010.11:10941991:AAAAAAAAAAAA… NC_000010.11:10941991:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4212928182, ss5282918780, ss5478696861, ss5741108418	NC_000010.11:10941991::A	NC_000010.11:10941991:AAAAAAAAAAAA… NC_000010.11:10941991:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
772390167	NC_000010.11:10941991:AAAAAAAAAAAA… NC_000010.11:10941991:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000010.11:10941991:AAAAAAAAAAAA… NC_000010.11:10941991:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3689281506	NC_000010.11:10941995::A	NC_000010.11:10941991:AAAAAAAAAAAA… NC_000010.11:10941991:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4260041	NT_008705.16:10923973:A:AA	NC_000010.11:10941991:AAAAAAAAAAAA… NC_000010.11:10941991:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4212928183, ss5741108419	NC_000010.11:10941991::AA	NC_000010.11:10941991:AAAAAAAAAAAA… NC_000010.11:10941991:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
772390167	NC_000010.11:10941991:AAAAAAAAAAAA… NC_000010.11:10941991:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000010.11:10941991:AAAAAAAAAAAA… NC_000010.11:10941991:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs3029016

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
Top▲ Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs3029016